The MC1R gene affects skin and hair color in humans.There are at least 13 polymorphisms of the gene inEuropean and Asian populations, 10 of which are nonsynonymous. In Africans, there are at least 5 polymorphisms of the gene, none of which are nonsynonymous.What might be one explanation for the differences inMC1R variation between Africans and non-Africans?
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The MC1R gene affects skin and hair color in humans.
There are at least 13 polymorphisms of the gene in
European and Asian populations, 10 of which are nonsynonymous. In Africans, there are at least 5 polymorphisms of the gene, none of which are nonsynonymous.
What might be one explanation for the differences in
MC1R variation between Africans and non-Africans?
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- In a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. What characteristics of the pedigree rule out inheritance of a trait encoded by a gene in the mtDNA as the cause of this disorder?In a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. Explain how a mutation in a nuclear gene might lead to deletions in mtDNA.In the species Polyfarius obscescens, one gene controls lipid storage. Individuals with the dominant F allele are fat, and individuals homozygous for the f allele are not. Transgenic individuals that contain the GFP gene (which produces green fluorescent protein) have also been created. A geneticist has mated a P0 generation green and fat individual with another individual that is neither green nor fat. Using appropriate genetic nomenclature, list all of the possible genotypes of both parents.
- Select all examples of mutations that are likely to be dominant to wild-type alleles. Select all examples of mutations that are likely to be dominant to wild-type alleles. Check All That Apply An amorphic allele of Gene B when Gene B is haploinsufficient. A hypomorphic allele of Gene A that reduces its function by 75%, when one wild-type allele of Gene A is sufficient for a wild-type phenotype. A hypermorphic allele of Gene C that encodes a constitutively active protein. An antimorphic allele of Gene D that encodes a protein that forms homodimers. A neomorphic allele of Gene Ethat results in expression of a transcription factor in the wrong cell types.Tay-Sachs disease is caused by loss of function mutation in a gene on chromosome 15 that codes for an enzyme. The disease is an inherited autosomal recessive condition which is found amongst Ashkenazi Jews of Central European origin. In this population, 2 in 4,900 children are born with the disease. What proportion of the population are carriers (heterozygotes) for this disease? ALL WORKING MUST BE SHOWNWhich of the following best explains how individuals who inherit phenylketonuria alleles can avoid the symptoms of this disease (mental impairment, foul smelling urine)? It exhibits variable expressivity. The expression of this disease depends on the environment. If the individual removes phenylalanine from their diet they can avoid the disease entirely. PKU alleles are epistatic to alleles of another gene, which acts downstream in phenylalanine metabolism. These individuals supplement their diets with enzymes that break-down phenylalanine.
- APOE gene has been found to be a major contributor to sporadic Alzheimer's disease (AD), by acting as an age-of-onset modifier for the common relatively late-onset forms of the disease. Among four alleles causing early onset of AD, the epsilon4 allele (APOE4) disrupts this function. If you generate transgenic monkeys in which the normal allele of APOE gene is knocked out, what phenotype will you expect for those knockout monkeys? A. The APE mRNA expression will be completely suppressed. B. They slow down the development of AD. C. They develop AD early. D. They don't show any AD symptom.Steven Frank and Laurence Hurst argued that a cytoplasmically inherited mutation in humans that has severe effects in males but no effect in females will not be eliminated from a population by natural selection because only females pass on mtDNA (S. A. Frank and L. D. Hurst. 1996. Nature 383:224). Using this argument, explain why males with Leber hereditary optic neuropathy are more severely affected than females.A neutral mutation arises in a diploid population of 10,000 individuals. Use this information to answer the following questions. a) What is the probability that the neutral allele goes to fixation? b) Assuming that the neutral mutation eventually goes to fixation, what is the expected time to fixation (in generations)?
- Some individuals in a canine population is susceptible to disease X, which strikes the adults. The susceptibility is later found to be determined by a single locus, with the R allele dominant over the r allele, such that the rr individuals are susceptible to the disease and the others immune. A population genetic survey showed that 1% of the newborns carry the rr genotype. Also, an independent estimation showed that mutation rate converting R to r is 5 × 10-3 per generation. You suspected that the r allele frequency is maintained by mutation- selection balance (MSB). If your hypothesis of MSB is true, then what is the survival rate for the rr adults? (Note: the equilibrium allele frequency ĝ is calculated as ĝ where %3D u is the mutation rate and s is the selection coefficient.) 5% 50% 95% 99% None of the aboveOne particularly useful feature of the Hardy-Weinberg equation is that it allows us to estimate the frequency of heterozygotes for recessive genetic diseases, assuming that Hardy-Weinberg equilibrium exists. As an example, let’s consider cystic fibrosis, which is a human genetic disease involving a gene that encodes a chloride transporter. Persons with this disorder have an irregularity in salt and water balance. One of the symptoms is thick mucus in the lungs that can contribute to repeated lung infections. In populations of Northern European descent, the frequency of affected individuals is approximately 1 in 2500. Because this is a recessive disorder, affected individuals are homozygotes. Assuming that the population is in Hardy-Weinberg equilibrium, what is the frequency of individuals who are heterozygous carriers?The gene SLC24A5 is a key part of the melanin expression pathway, which contributes to skin and hair pigmentation. A SNP that is strongly associated with lighter skin pigment in Europe is rs1426654. The SNP has two alleles, A (darker skin) and G (light skin). fG=100% in Utah European-Americans, 62% in Mexico, 41% in Puerto Rico, 19% African-Americans in Charleston, SC. Calculate FST at this locus. If the genome-wide Fst for humans globally is 0.11, do you think this locus is currently or has been under selection in the past? If so, what type of selection?